Clinical challenges in the management of a prenatally diagnosed cloacal malformation.

ABSTRACT

Cloacal dysgenesis sequence is a severe malformation of the primitive cloaca and is characterized by a phallus-like structure, smooth perineum and the absence of genitourinary and anal orifices. It is usually accompanied by oligohydramnios, kidney dysplasia, and pulmonary hypoplasia. We present a case of a 29-year-old woman who was referred at 26 weeks of gestation due to an enlarged fetal abdominal circumference. Investigations revealed the presence of fetal ascites, intrapelvic cysts, calcified meconium, severe oligohydramnios and a 46XX karyotype. Fetal abdominal parecentesis performed on several occasions failed to reduce intra-abdominal pressure. To our knowledge this case represents the first variation of cloacal dysgenesis sequence to contain three dysmorphic structures along with the common findings of this anomaly.